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1. Epidemiological shift of glucose-6-phosphate dehydrogenase mutations in northern Italy in the last 15 years.

Author

Duca L, Nava I, Tavazzi D, Marcon A, Motta I, and Graziadei G

Subjects
Adolescent, Adult, Africa South of the Sahara ethnology, Aged, Alleles, Asian People genetics, Child, Child, Preschool, China ethnology, Emigrants and Immigrants, Female, Gene Frequency, Genetic Variation, Genotype, Glucosephosphate Dehydrogenase Deficiency genetics, Humans, Italy epidemiology, Male, Mediterranean Region ethnology, Middle Aged, Retrospective Studies, White People genetics, Young Adult, Glucosephosphate Dehydrogenase genetics, Glucosephosphate Dehydrogenase Deficiency epidemiology, Mutation
Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive hemolytic anemia caused by mutations in G6PD gene. The distribution and frequency of genetic variants differ depending on ethnicity and geographical areas. Because of new migrations different variants are now present in Europe. This retrospective study aims to identify variants among the G6PD deficient subjects referred since 2004 to IRCCS Ca' Granda Foundation Hospital in Milan. The subjects were divided into 3 groups: group 1 (2004-2008), group 2 (2009-2013), and group 3 (2014-2018). During 15 years a significant decrease of the Mediterranean and an important increase of the African, Asian, and uncommon variants (classified as Others) have been observed. Three new mutations were found: in group 2 heterozygosity for c.[1454G > A] (Gly485Asp) in an adult female with severe anemia, high bilirubin levels and G6PD activity of 0,69 (IU/gHb) and heterozygosity for c.[584A > G] (Gln195Arg) in an elderly woman of Italian origin showing only anemia and enzymatic activity of 1,54 (IU/gHb) were detected. In group 3 hemizygosity for c.[670A > T] (Ile224Phe) in an adult Chinese man without anemia but with total absence of G6PD activity was found. These data reflect the appearance of uncommon G6PD mutations in northern Italy, probably due to new migrations, as consequence G6PD characterization becomes a diagnostic issue., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Published
2021
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2. Mutation analysis of hepcidin and ferroportin genes in Italian prospective blood donors with iron overload.

Author

Duca L, Delbini P, Nava I, Vaja V, Fiorelli G, and Cappellini MD

Subjects
Blood Donors, DNA Mutational Analysis, Hepcidins, Iron Overload epidemiology, Italy, Antimicrobial Cationic Peptides genetics, Cation Transport Proteins genetics, Iron Overload genetics
Abstract

Maintenance of iron balance is essential for humans and requires the coordinate regulation of iron transport into plasma from dietary sources in the duodenum, from recycled senescent red cells in macrophages, and from storage in hepatocytes. Hepcidin, a recently identified antimicrobial peptide produced in the liver, has been shown to play a central role in the homeostatic regulation of iron absorption and distribution [1]. It is a negative regulator of iron absorption in the small intestine and of iron release from macrophages engaged in the recycling of iron senescent erythrocytes [2]. The human hepcidin gene contains three exons that encode a 72-aa precursor (pro-hepcidin) with a characteristic furin cleavage site immediately N-terminal to the 25-aa major hepcidin species found in plasma and urine [3]. Recently, hepcidin has been shown to regulate iron homeostasis by interaction with ferroportin, an iron cellular exporter highly expressed in absorptive enterocytes, macrophages, hepatocytes, and placental cells [4].

Published
2009
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